EPS15L1 gene related symptoms and diseases

All the information presented here about the EPS15L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EPS15L1 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Finger syndactyly Very Common - Between 80% and 100% cases
Split hand Very Common - Between 80% and 100% cases
Oligodactyly Very Common - Between 80% and 100% cases
Aniridia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EPS15L1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Absent hand
Mendelian

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Rare diseases associated to EPS15L1 gene

Here you will find a list of rare diseases related to the EPS15L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION


Alternate names

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm, ectrodactyly, split hand foot malformation

Description

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

  • Sensorineural hearing impairment
  • Finger syndactyly
  • Split hand
  • Oligodactyly
  • Aniridia


More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

SOURCES: ORPHANET


Potential gene panels for EPS15L1 gene

EPS15L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPS15L1 gene.

More info about this panel


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